rs121908068

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121908068(C;G)

Make rs121908068(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177292124

Gene

NSD1

is a	snp
is	mentioned by
dbSNP	rs121908068
dbSNP (classic)	rs121908068
ClinGen	rs121908068
ebi	rs121908068
HLI	rs121908068
Exac	rs121908068
Gnomad	rs121908068
Varsome	rs121908068
LitVar	rs121908068
Map	rs121908068
PheGenI	rs121908068
Biobank	rs121908068
1000 genomes	rs121908068
hgdp	rs121908068
ensembl	rs121908068
geneview	rs121908068
scholar	rs121908068
google	rs121908068
pharmgkb	rs121908068
gwascentral	rs121908068
openSNP	rs121908068
23andMe	rs121908068
SNPshot	rs121908068
SNPdbe	rs121908068
MSV3d	rs121908068
GWAS Ctlg	rs121908068

Max Magnitude

0

OMIM	606681
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908068(G;G) rs121908068(T;T)
Alt	rs121908068(G;G) rs121908068(T;T)
Reference	Rs121908068(C;C)
Significance	Pathogenic
Disease	Sotos syndrome 1 not specified
Variation	info
Gene	NSD1
CLNDBN	Sotos syndrome 1 not specified
Reversed	0
HGVS	NC_000005.9:g.176719125C>G; NC_000005.9:g.176719125C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004355.5, RCV000429465.1,